Publications – Page 4

May 18, 2021

A novel pathogenic nonsense triple-nucleotide mutation in the Low-Density Lipoprotein Receptor gene and its clinical correlation with Familial Hypercholesterolemia.

Akhter N., Sadeque A., Khalid A., Ali S.H.B., Ahmed N., Azam, M. andQamar R. Genetic Testing and Molecular Biomarkers,15:601-606 (2011).

CLRN1 mutations cause non-syndromic retinitis pigmentosa.

Khan, M.I., Kersten, F.F.J., Azam, M., Collin, R.W.J., Hussain, A., Shah, S.T.A., Keunen, J.E.E., Kremer, H., Cremers, F.P.M., Qamar R., and den Hollander, A.I. Ophthalmology, 7:1444-1448, (2011).

Antimicrobial Resistant Escherichia coli Strains Isolated from Food Animals in Pakistan.

Idress, M., Shah, M.A., Michael, S., Qamar, R. and Bokhari, H. Pakistan Journal of Zoology, 43:303-310 (2011).

May 18, 2021

Characterization of Y-chromosomal Short Tandem Repeat Markers in the Pakistani Populations

Siddiqi, S., Mansoor, A., Usman, S., Nasir, M., Khan, K.M.and Qamar, R.. Genetic Testing and Molecular Biomarkers,15:165-172 (2011).

Role of tissue plasminogen activator and plasminogen activator inhibitor polymorphism in Myocardial Infarction.

Ahmed, W., Malik, M., Khan, AA., Saeed, I., Sadeque, A., Kaleem, U., Ajmal, M., Azam, M and Qamar R. Molecular Biology Reports, 38:2541-8 (2011).

May 18, 2021

Missense mutations at homologous positions in the 4th and 5th laminin A G-like domains of EYS are associated with autosomal recessive retinitis pigmentosa.

Khan, M.I., Collin, R.W.J., Arimadyo, K., Micheal, S., Azam, M., den Hollander, A.I., Qamar R., and Cremers, F.P.M. Molecular Vision, 16:2753-2759 (2010).

May 18, 2021

POLYAR, a new computer program for prediction of poly(A) sites in human sequences.

Akhtar, M.N., Bukhari, S.A., Fazal, Z., and Qamar, R. and Shahmuradov, I.A. BMC Genomics, 11:646 (2010).

May 18, 2021

The Association of Glutathione-S-transferase GSTT1 and GSTM1 gene polymorphism with Pseudoexfoliative Glaucoma in a Pakistani population.

Khan, M.I, Micheal, S., Akhter, F., Ahmed, W., Ejaz, B., Ahmed, A., and Qamar, R. Molecular Vision, 16:2146-2152

Virulence factors profile of drug-resistant Escherichia coli isolates from urinary tract infections in Punjab, Pakistan.

Idress, M., Mussarat, U., Badshah, Y., Qamar, R. and Bokhari, H. European Journal of Clinical Microbiology & Infectious Diseases, 29:1533-1537 (2010).

May 18, 2021

Mutations in the IMPG2, encodinginterphotoreceptor matrix proteoglycan 2, cause autosomal recessive retinitis pigmentosa.

Bandah-Rozenfeld, D., Collin, R.W.J., Banin, E., L. van den Born, I., Coene, K.L.M., Siemiatkowska, A.M., Zelinger, L., Khan, M.I., Lefeber, D.J., Erdinest, I., Testa, F., Simonelli, F., Voesenek. K., Blokland, E.A.W., Strom, T.M., Klaver, C.C.W., Qamar, R., Banfi, S., Cremers, F.P.M., Sharon, D., den Hollander, A.I. American Journal of Human Genetics, 87:199-208 (2010).

Category: Publications